Linked Data
ClinVar Variation Id:
5618
ClinVar RCV Id:
RCV000005970
dbSNP Id:
rs119491109
gnomAD v2:
6-74348200-T-C
gnomAD v4:
6-73638477-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73638477T>C , CM000668.2:g.73638477T>C | GRCh38 |
| NC_000006.11:g.74348200T>C , CM000668.1:g.74348200T>C | GRCh37 |
| NC_000006.10:g.74404921T>C | NCBI36 |
| NG_008272.1:g.20538A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000355773.6:c.548A>G MANE Select | ENSP00000348019.5:p.His183Arg | |
| ENST00000355773.5:c.548A>G | ENSP00000348019.5:p.His183Arg | |
| ENST00000481996.1:n.314A>G | ||
| NM_012434.4:c.548A>G | NP_036566.1:p.His183Arg | |
| XM_005248710.2:c.497A>G | XP_005248767.1:p.His166Arg | |
| XM_005248711.1:c.350A>G | XP_005248768.1:p.His117Arg | |
| XM_011535750.1:c.548A>G | XP_011534052.1:p.His183Arg | |
| XM_011535751.1:c.548A>G | XP_011534053.1:p.His183Arg | |
| NM_012434.5:c.548A>G MANE Select | NP_036566.1:p.His183Arg | |
| NM_001382629.1:c.317A>G | NP_001369558.1:p.His106Arg | |
| NM_001382630.1:c.548A>G | NP_001369559.1:p.His183Arg | |
| NM_001382631.1:c.569A>G | NP_001369560.1:p.His190Arg | |
| NM_001382632.1:c.548A>G | NP_001369561.1:p.His183Arg | |
| NM_001382633.1:c.548A>G | NP_001369562.1:p.His183Arg | |
| NM_001382634.1:c.548A>G | NP_001369563.1:p.His183Arg | |
| NM_001382635.1:c.548A>G | NP_001369564.1:p.His183Arg | |
| NM_001382636.1:c.317A>G | NP_001369565.1:p.His106Arg |